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Reviewed, UniProtKB/Swiss-Prot Q9BVK2 (ALG8_HUMAN)

Last modified June 16, 2009. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    EC=2.4.1.-
Alternative name(s):
    Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
    Asparagine-linked glycosylation protein 8
Gene names
Name: ALG8
ORF Names: HUSSY-02
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length526 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Involvement in disease

Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Ref.4

Sequence similarities

Belongs to the ALG6/ALG8 glucosyltransferase family.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseCongenital disorder of glycosylation
Disease mutation
   DomainTransmembrane
   Molecular functionGlycosyltransferase
Transferase
Gene Ontology (GO)
   Biological processprotein amino acid N-linked glycosylation Ref.3

Inferred from mutant phenotype. Source: UniProtKB

   Cellular componentendoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionalpha-1,3-mannosyltransferase activity Ref.3

Inferred from mutant phenotype. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 526526Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
PRO_0000174162

Regions

Transmembrane4 – 2421 Potential
Transmembrane103 – 12220 Potential
Transmembrane143 – 16321 Potential
Transmembrane188 – 20821 Potential
Transmembrane238 – 25821 Potential
Transmembrane334 – 35421 Potential
Transmembrane368 – 38821 Potential
Transmembrane389 – 40921 Potential
Transmembrane427 – 44923 Potential
Transmembrane461 – 48121 Potential
Transmembrane488 – 50821 Potential

Natural variations

Natural variant471T → P in CDG1H. Ref.4
VAR_023480
Natural variant2221N → S: dbSNP rs665278. Ref.4 Ref.1
VAR_023481
Natural variant2751G → D in CDG1H. Ref.4
VAR_023482
Natural variant4391I → T: dbSNP rs17825668.
VAR_031596

Experimental info

Sequence conflict4781F → Y in CAA12176. Ref.1
Sequence conflict5031I → V in AAH01133. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9BVK2-1 [UniParc].

Last modified April 3, 2007. Version 2.
Checksum: 71589A4EC09C3BE7

FASTA52660,088
        10         20         30         40         50         60 
MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT 

        70         80         90        100        110        120 
SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA 

       130        140        150        160        170        180 
VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL 

       190        200        210        220        230        240 
FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS 

       250        260        270        280        290        300 
LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 

       310        320        330        340        350        360 
LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR 

       370        380        390        400        410        420 
GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL 

       430        440        450        460        470        480 
LFTAPELPIK ILLMLLFTIY SISSLKTLFR KEKPLFNWME TFYLLGLGPL EVCCEFVFPF 

       490        500        510        520 
TSWKVKYPFI PLLLTSVYCA VGITYAWFKL YVSVLIDSAI GKTKKQ 

« Hide

References

« Hide 'large scale' references
[1]"Characterization of 16 novel human genes showing high similarity to yeast sequences."
Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
Yeast 18:69-80(2001) [PubMed: 11124703] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-222.
Tissue: Melanocyte.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skin.
[3]"A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation."
Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H.
J. Biol. Chem. 278:9962-9971(2003) [PubMed: 12480927] [Abstract]
Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
[4]"Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)."
Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G.
J. Med. Genet. 41:550-556(2004) [PubMed: 15235028] [Abstract]
Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

Web resources

GeneReviews
GGDB

GlycoGene database

Cross-references

Sequence databases

AJ224875 mRNA. Translation: CAA12176.1. Different initiation.
BC001133 mRNA. Translation: AAH01133.1.
IPIIPI00032370.
RefSeqNP_076984.2.
UniGeneHs.503368

3D structure databases

ModBaseSearch...

Protein family/group databases

CAZyGT57. Glycosyltransferase Family 57.

Proteomic databases

PRIDEQ9BVK2.

Genome annotation databases

EnsemblENSG00000159063. Homo sapiens. [Contig view]
GeneID79053.
NMPDRfig|9606.3.peg.6356.

Organism-specific databases

GeneCardsGC11M077489.
HGNCHGNC:23161. ALG8.
MIM608103. gene.
608104. phenotype.
Orphanet137. CDG syndrome.
79325. CDG syndrome, type Ih.
PharmGKBPA134942124.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9BVK2.
HOVERGENQ9BVK2.
OMAQ9BVK2. HNLNYSS.

Gene expression databases

ArrayExpressQ9BVK2.
BgeeQ9BVK2.
CleanExHS_ALG8.
GermOnlineENSG00000159063. Homo sapiens.

Family and domain databases

InterProIPR004856. Glycosyltransferase_ALG6/ALG8.
[Graphical view]
PANTHERPTHR12413. Alg6_Alg8. 1 hit.
PfamPF03155. Alg6_Alg8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio67803.
SOURCESearch...

Entry information

Entry nameALG8_HUMAN
AccessionPrimary (citable) accession number: Q9BVK2
Secondary accession number(s): O60860
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: April 3, 2007
Last modified: June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents